ClinVar (all) for Orgtrack (Select 508717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707702	NM_003060.4(SLC22A5):c.245G>T (p.Arg82Leu)	SLC22A5 (R82L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707701	NM_003060.4(SLC22A5):c.475A>C (p.Ile159Leu)	SLC22A5 (I159L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707700	NM_003060.4(SLC22A5):c.545G>T (p.Gly182Val)	SLC22A5 (G182V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707699	NM_003060.4(SLC22A5):c.1000C>G (p.Leu334Val)	SLC22A5 (L334V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707698	NM_003060.4(SLC22A5):c.1534A>G (p.Ser512Gly)	SLC22A5 (S512G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707697	NM_003060.4(SLC22A5):c.892C>G (p.Arg298Gly)	SLC22A5 (R298G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707696	NM_003060.4(SLC22A5):c.1018A>T (p.Ile340Phe)	SLC22A5 (I340F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707695	NM_003060.4(SLC22A5):c.235C>A (p.His79Asn)	SLC22A5 (H79N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707694	NM_003060.4(SLC22A5):c.476T>C (p.Ile159Thr)	SLC22A5 (I159T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707693	NM_003060.4(SLC22A5):c.1324G>A (p.Ala442Thr)	SLC22A5 (A442T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707692	NM_003060.4(SLC22A5):c.281C>T (p.Ala94Val)	SLC22A5 (A94V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707691	NM_003060.4(SLC22A5):c.103A>G (p.Thr35Ala)	SLC22A5 (T35A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707690	NM_003060.4(SLC22A5):c.496A>G (p.Arg166Gly)	SLC22A5 (R166G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707689	NM_003060.4(SLC22A5):c.1016A>G (p.Asn339Ser)	SLC22A5 (N339S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707688	NM_003060.4(SLC22A5):c.194A>T (p.His65Leu)	SLC22A5 (H65L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707687	NM_003060.4(SLC22A5):c.289C>G (p.Leu97Val)	SLC22A5 (L97V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707686	NM_003060.4(SLC22A5):c.182C>T (p.Ala61Val)	SLC22A5 (A61V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707685	NM_003060.4(SLC22A5):c.223C>A (p.Arg75Ser)	SLC22A5 (R75S)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707684	NM_003060.4(SLC22A5):c.172C>G (p.Leu58Val)	SLC22A5 (L58V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707683	NM_003060.4(SLC22A5):c.866G>A (p.Arg289Gln)	SLC22A5 (R289Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707682	NM_003060.4(SLC22A5):c.800G>C (p.Gly267Ala)	SLC22A5 (G267A +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1707681	NM_003060.4(SLC22A5):c.1232G>T (p.Gly411Val)	SLC22A5 (G411V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707680	NM_003060.4(SLC22A5):c.191A>T (p.Asn64Ile)	SLC22A5 (N64I)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1707679	NM_003060.4(SLC22A5):c.304G>A (p.Asp102Asn)	SLC22A5 (D102N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1707678	NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)	SLC22A5 (G234R +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 1707677	NM_003060.4(SLC22A5):c.220G>C (p.Gly74Arg)	SLC22A5 (G74R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707676	NM_003060.4(SLC22A5):c.1106A>C (p.His369Pro)	SLC22A5 (H369P +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707675	NM_003060.4(SLC22A5):c.5G>C (p.Arg2Pro)	SLC22A5 (R2P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707674	NM_003060.4(SLC22A5):c.1099A>G (p.Asn367Asp)	SLC22A5 (N367D +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707673	NM_003060.4(SLC22A5):c.158C>G (p.Pro53Arg)	SLC22A5 (P53R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707672	NM_003060.4(SLC22A5):c.84C>G (p.Ser28Arg)	SLC22A5 (S28R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707671	NM_003060.4(SLC22A5):c.679C>A (p.Arg227Ser)	SLC22A5 (R227S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 1707670	NM_003060.4(SLC22A5):c.274T>G (p.Phe92Val)	SLC22A5 (F92V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707669	NM_003060.4(SLC22A5):c.646G>C (p.Val216Leu)	SLC22A5 (V216L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707668	NM_003060.4(SLC22A5):c.704T>G (p.Val235Gly)	SLC22A5 (V235G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707667	NM_003060.4(SLC22A5):c.341T>C (p.Leu114Pro)	SLC22A5 (L114P)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707666	NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)	SLC22A5 (A380T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707665	NM_003060.4(SLC22A5):c.177C>G (p.Ser59Arg)	SLC22A5 (S59R)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707664	NM_003060.4(SLC22A5):c.1035C>G (p.Ile345Met)	SLC22A5 (I345M +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707663	NM_003060.4(SLC22A5):c.1300G>C (p.Val434Leu)	SLC22A5 (V434L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707662	NM_003060.4(SLC22A5):c.814G>C (p.Ala272Pro)	SLC22A5 (A272P +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707661	NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)	SLC22A5 (S355L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707660	NM_003060.4(SLC22A5):c.1519T>G (p.Leu507Val)	SLC22A5 (L507V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707659	NM_003060.4(SLC22A5):c.269C>T (p.Ala90Val)	SLC22A5 (A90V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707658	NM_003060.4(SLC22A5):c.1609A>G (p.Ser537Gly)	SLC22A5 (S537G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707657	NM_003060.4(SLC22A5):c.934A>C (p.Ile312Leu)	SLC22A5 (I312L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707656	NM_003060.4(SLC22A5):c.1294G>C (p.Val432Leu)	SLC22A5 (V432L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707655	NM_003060.4(SLC22A5):c.1462C>G (p.Arg488Gly)	SLC22A5 (R488G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707654	NM_003060.4(SLC22A5):c.164C>T (p.Ala55Val)	SLC22A5 (A55V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707653	NM_003060.4(SLC22A5):c.289C>A (p.Leu97Met)	SLC22A5 (L97M)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707652	NM_003060.4(SLC22A5):c.685A>C (p.Ile229Leu)	SLC22A5 (I229L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707651	NM_003060.4(SLC22A5):c.544G>T (p.Gly182Cys)	SLC22A5 (G182C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707650	NM_003060.4(SLC22A5):c.562A>G (p.Ile188Val)	SLC22A5 (I188V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely benign
Select item 1707649	NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)	SLC22A5 (A301G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707648	NM_003060.4(SLC22A5):c.686T>C (p.Ile229Thr)	SLC22A5 (I229T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707647	NM_003060.4(SLC22A5):c.1037T>C (p.Met346Thr)	SLC22A5 (M346T +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707646	NM_003060.4(SLC22A5):c.575A>G (p.Asn192Ser)	SLC22A5 (N192S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1707645	NM_003060.4(SLC22A5):c.217G>A (p.Asp73Asn)	SLC22A5 (D73N)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1707644	NM_003060.4(SLC22A5):c.1505C>T (p.Thr502Ile)	SLC22A5 (T502I +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1686196	NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)	SLC22A5 (Y211H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 1516651	NM_003060.4(SLC22A5):c.28T>C (p.Phe10Leu)	SLC22A5 (F10L)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GUncertain significance
Select item 1493561	NM_003060.4(SLC22A5):c.1533G>C (p.Glu511Asp)	SLC22A5 (E511D +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1491545	NM_003060.4(SLC22A5):c.171C>G (p.Asn57Lys)	SLC22A5 (N57K)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1489784	NM_003060.4(SLC22A5):c.1262C>T (p.Pro421Leu)	SLC22A5 (P421L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1488980	NM_003060.4(SLC22A5):c.1475A>G (p.Tyr492Cys)	SLC22A5 (Y492C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1438302	NM_003060.4(SLC22A5):c.1394T>G (p.Val465Gly)	SLC22A5 (V465G +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1429538	NM_003060.4(SLC22A5):c.391G>A (p.Glu131Lys)	SLC22A5 (E131K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1414576	NM_003060.4(SLC22A5):c.1310T>C (p.Phe437Ser)	SLC22A5 (F461S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1394736	NM_003060.4(SLC22A5):c.1342G>A (p.Val448Met)	SLC22A5 (V472M +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1384762	NM_003060.4(SLC22A5):c.1258G>C (p.Val420Leu)	SLC22A5 (V444L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1384136	NM_003060.4(SLC22A5):c.825G>T (p.Trp275Cys)	SLC22A5 (W275C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1366081	NM_003060.4(SLC22A5):c.197C>T (p.Thr66Ile)	SLC22A5 (T66I)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1354484	NM_003060.4(SLC22A5):c.115T>G (p.Ser39Ala)	SLC22A5 (S39A)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 1353033	NM_003060.4(SLC22A5):c.1116C>G (p.Ile372Met)	SLC22A5 (I396M +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1310598	NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys)	SLC22A5 (Y449C +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect +1 more	GConflicting classifications of pathogenicity
Select item 1068475	NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser)	SLC22A5 (L507S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 1065994	NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu)	SLC22A5 (G15E)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 1063923	NM_003060.4(SLC22A5):c.850C>T (p.Leu284Phe)	SLC22A5 (L284F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1042602	NM_003060.4(SLC22A5):c.853A>T (p.Ile285Phe)	SLC22A5 (I285F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1039890	NM_003060.4(SLC22A5):c.325G>C (p.Glu109Gln)	SLC22A5 (E109Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1026131	NM_003060.4(SLC22A5):c.254G>A (p.Arg85Gln)	SLC22A5 (R85Q)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1021133	NM_003060.4(SLC22A5):c.412G>T (p.Asp138Tyr)	SLC22A5 (D138Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1005556	NM_003060.4(SLC22A5):c.613A>C (p.Met205Leu)	SLC22A5 (M205L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 1002557	NM_003060.4(SLC22A5):c.397A>C (p.Asn133His)	SLC22A5 (N133H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 990996	NM_003060.4(SLC22A5):c.1568A>G (p.Gln523Arg)	SLC22A5 (Q523R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 990991	NM_003060.4(SLC22A5):c.4C>G (p.Arg2Gly)	SLC22A5 (R2G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 968989	NM_003060.4(SLC22A5):c.368T>G (p.Val123Gly)	SLC22A5 (V123G)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 956437	NM_003060.4(SLC22A5):c.1412G>T (p.Arg471Leu)	SLC22A5 (R471L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GLikely pathogenic
Select item 934190	NM_003060.4(SLC22A5):c.1552C>T (p.Pro518Ser)	SLC22A5 (P518S +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 859217	NM_003060.4(SLC22A5):c.961C>G (p.Leu321Val)	SLC22A5 (L321V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 846688	NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu)	SLC22A5 (P290L +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GPathogenic/Likely pathogenic
Select item 836693	NM_003060.4(SLC22A5):c.1521G>C (p.Leu507Phe)	SLC22A5 (L507F +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GConflicting classifications of pathogenicity
Select item 835927	NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser)	SLC22A5 (Y243S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 834267	NM_003060.4(SLC22A5):c.1631A>T (p.Asp544Val)	SLC22A5 (D544V +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 809800	NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys)	SLC22A5 (Y124C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 657702	NM_003060.4(SLC22A5):c.1552C>G (p.Pro518Ala)	SLC22A5 (P518A +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 656943	NM_003060.4(SLC22A5):c.1360T>C (p.Tyr454His)	SLC22A5 (Y454H +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 655992	NM_003060.4(SLC22A5):c.26C>T (p.Ala9Val)	SLC22A5 (A9V)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 649879	NM_003060.4(SLC22A5):c.363G>T (p.Gln121His)	SLC22A5 (Q121H)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance
Select item 645726	NM_003060.4(SLC22A5):c.770G>A (p.Arg257Gln)	SLC22A5 (R257Q +1 more)	Single nucleotide variant (missense variant)	Renal carnitine transport defect	GUncertain significance

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